KEGG   Homo sapiens (human): 129880
Entry
129880            CDS       T01001                                 
Symbol
BBS5
Name
(RefSeq) Bardet-Biedl syndrome 5
  KO
K16748  Bardet-Biedl syndrome 5 protein
Organism
hsa  Homo sapiens (human)
Disease
H00418  Bardet-Biedl syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    129880 (BBS5)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  BBSome
   129880 (BBS5)
SSDB
Motif
Pfam: BBL5 bPH_3 Vps36_ESCRT-II Voldacs PH_TFIIH U6-snRNA_bdg
Other DBs
NCBI-GeneID: 129880
NCBI-ProteinID: NP_689597
OMIM: 603650
HGNC: 970
Ensembl: ENSG00000163093
UniProt: Q8N3I7 A0A0S2Z626
Structure
LinkDB
Position
2:169479494..169506655
AA seq 341 aa
MSVLDALWEDRDVRFDLSAQQMKTRPGEVLIDCLDSIEDTKGNNGDRGRLLVTNLRILWH
SLALSRVNVSVGYNCILNITTRTANSKLRGQTEALYILTKCNSTRFEFIFTNLVPGSPRL
FTSVMAVHRAYETSKMYRDFKLRSALIQNKQLRLLPQEHVYDKINGVWNLSSDQGNLGTF
FITNVRIVWHANMNDSFNVSIPYLQIRSIKIRDSKFGLALVIESSQQSGGYVLGFKIDPV
EKLQESVKEINSLHKVYSASPIFGVDYEMEEKPQPLEALTVEQIQDDVEIDSDGHTDAFV
AYFADGNKQQDREPVFSEELGLAIEKLKDGFTLQGLWEVMS
NT seq 1026 nt   +upstreamnt  +downstreamnt
atgtcggtgctggatgcgctttgggaggatcgggatgtccgtttcgacctgtccgcgcag
caaatgaaaacaagacctggagaagtccttattgattgtttagattccattgaagacacc
aaaggaaataatggagatagaggtagactcttggtaacaaatttaagaattctctggcac
tctttggcattatcaagagtcaatgtttctgtcggttacaattgcatattgaatattaca
acaaggactgctaactctaaattacgaggccaaactgaagctctctatatactaacaaaa
tgtaacagtactcgttttgaatttatatttacaaatttggttcctggaagccctagactt
tttacttctgtgatggcagtacacagagcttatgaaacttctaaaatgtatcgtgatttt
aaattaagaagtgcactaattcagaacaagcaactaagactgttgccacaagaacatgta
tatgataaaataaatggagtttggaatttatccagtgatcagggcaatttaggaaccttt
tttattaccaatgtgagaattgtgtggcatgcaaatatgaatgatagttttaatgtcagt
ataccatatctgcaaattcgttcaataaagattagagattcaaaatttggtttagctctt
gtcatagaaagctctcagcagagtggtggatatgttcttggctttaaaatagatcctgtg
gaaaaactacaagaatcagttaaggaaatcaattcacttcacaaagtctattctgccagt
cccatatttggagttgattatgagatggaagaaaagccccagccgctcgaagctctgaca
gtcgaacaaattcaagatgatgtagaaatagactctgatggtcacacggatgcttttgtg
gcttattttgctgatggcaataagcaacaagatcgtgaacctgtattttcagaagaactg
gggcttgcaatagagaaattgaaggatggattcaccctacagggactttgggaagtaatg
agttga

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